Variant (rsID / SNP)

rs147841606

rs147841606 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COCH. Location: chromosome 14, position 31,348,684. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

COCHBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:31348684
Cytoband: 14q12
HGVS: NM_004086.3(COCH):c.429A>G (p.Pro143=)
Allele change: Synonymous_P143P

Associated conditions / phenotypes

Autosomal dominant nonsyndromic hearing loss 9|Nonsyndromic genetic hearing loss

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.